HsaINT0012966 @ hg38
Intron Retention
Gene
ENSG00000099889 | ARVCF
Description
armadillo repeat gene deleted in velocardiofacial syndrome [Source:HGNC Symbol;Acc:HGNC:728]
Coordinates
chr22:19972737-19973036:-
Coord C1 exon
chr22:19972925-19973036
Coord A exon
chr22:19972828-19972924
Coord C2 exon
chr22:19972737-19972827
Length
97 bp
Sequences
Splice sites
5' ss Seq
CAGGTGCGG
5' ss Score
9.13
3' ss Seq
GTCTGTGTTTTATGTCTCAGTCA
3' ss Score
8.06
Exon sequences
Seq C1 exon
CCAATCGGTACGCGAAGCGAAGGCGGCGTCACACGTGCTGCAGACAGTGTGGAGCTACAAGGAGCTGCGTGGTACCTTGCAGAAAGATGGTTGGACCAAGGCGCGCTTCCAG
Seq A exon
GTGCGGCTTCCCTGGCCTTCCTTCCATTCCCTGCTCACTTTGCCTTATTCCCACTCCATGTGCTTCACCCACCCTGTGTCTGTGTTTTATGTCTCAG
Seq C2 exon
TCAGCTGCTGCTACTGCCAAGGGGCCTAAGGGAGCACTGAGTCCTGGGGGCTTCGATGACAGCACGCTGCCACTGGTGGACAAGAGCCTTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000099889:ENST00000263207:15
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.132 A=NA C2=0.903
Domain overlap (PFAM):
C1:
NO
A:
NA
C2:
NO
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GTGCTGCAGACAGTGTGGAG
R:
CAAGGCTCTTGTCCACCAGTG
Band lengths:
169-266
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains
- Pre-implantation embryo development